Varaico: Literature-Extracted Genetic Variants

Gene:CEP41
Variant:p.T163I

CEP41

69 papers

RefSeq Summary

This gene encodes a centrosomal and microtubule-binding protein which is predicted to have two coiled-coil domains and a rhodanese domain. In human retinal pigment epithelial cells the protein localiz...

Pfam Domains

Rhodaneseaa 160–260UCSCRhodanese-like domain

Gene Aliases

HGNC Name

centrosomal protein 41

HGNC Previous Symbol

TSGA14

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_018718.3
p.T163I
c.488C>T
Surrounding Variants
1 paper
NM_018718.3
p.P167S
c.499C>T
1 paper
NM_018718.3
p.D150_K153del4
c.448_458del12
1 paper
NM_018718.3
p.F173F
c.519C>T
2 papers
NM_018718.3
p.R179H
c.536G>A
1 paper
NM_018718.3
p.S144N
c.431G>A
2 papers
NM_018718.3
p.S141Splc
c.423-2A>C
1 paper
NM_018718.3
p.V190F
c.568G>T
1 paper
NM_018718.3
p.I197T
c.590T>C
1 paper
NM_018718.3
p.T199P
c.595A>C
1 paper
NM_018718.3
p.S201C
c.602C>G
1 paper
NM_018718.3
p.M204V
c.610A>G
6 papers
NM_018718.3
p.P206A
c.616C>G
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."